You had a positive c9 orf72 test, and clinical weakness? Your emg was diagnostic for ALS? I am not sure what you are saying here. A positive test for a FALs mutation does not make a diagnosis. The current criteria most frequently used revised El Escorial and thecproposed ones Gold Coast do not make any allowance for relaxed criteria for genetic carriers. In fact the Gold Coast paper specifically said genetic status should not factor in. If you knew you were c9 positive and were asymptomatic and then got ALS there are a lot of people to whom that happened including me. C9 progression rates vary tremendously Some pf us are lucky enough to be slow. Or you were weak, diagnosed with ALS , genetically tested ( as all PALS should be) and had c9? That happens in about 6-7 percent of US PALS with European blood.
either way FALS genetic testing is not to be done lightly There are many consequences as genetic discrimination is a real thing. People with ALs really have nothing to lose by testing. Those with family history need to weigh the pros and cons before doing so. A carrier of my acquaintance recently applied for life insurance and was asked about this - they had to disclose and were refused. Not disclosing would invalidate it. if someone is very close to a diagnosis their neurologist might discuss testing not to make a diagnosis but as a data point. Most people in this section are in none of these categories
